Varaico: Literature-Extracted Genetic Variants

Gene:ALDH5A1
Variant:p.G16insFs

ALDH5A1

250 papers

RefSeq Summary

This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-h...

Pfam Domains

Aldedhaa 69–530UCSCAldehyde dehydrogenase family

Gene Aliases

HGNC Name

aldehyde dehydrogenase 5 family member A1

HGNC Alias Symbols

SSADH; SSDH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001080.3
p.G16insFs
c.46dupG
Surrounding Variants
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins44
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins41
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins32
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins49
1 paper
NM_001080.3
p.L15_G16ins16
c.45_46ins48
1 paper
NM_001080.3
p.L15_G16ins16
c.45_46ins48
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins49
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins49
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins49
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins40
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins41
1 paper
NM_001080.3
p.L15_G16insFs
c.45_46ins46
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